"GeneDx"[submitter] AND "USH1C"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 270

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 303796	NM_153676.4(USH1C):c.*211A>G	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C +2 more	GBenign
Select item 303797	NM_153676.4(USH1C):c.*186C>T	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 262730	NM_153676.4(USH1C):c.*46T>C	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GBenign
Select item 303800	NM_153676.4(USH1C):c.*42C>T	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1188218	NM_153676.4(USH1C):c.*1G>C	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1706397	NM_153676.4(USH1C):c.2696G>A (p.Arg899His)	USH1C (R899H)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 734763	NM_153676.4(USH1C):c.2696G>T (p.Arg899Leu)	USH1C (R899L)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 262733	NM_153676.4(USH1C):c.2656-47C>T	USH1C	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GBenign
Select item 675783	NM_153676.4(USH1C):c.2656-106T>C	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233407	NM_153676.4(USH1C):c.2656-115G>A	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242209	NM_153676.4(USH1C):c.2656-159del	USH1C	Deletion (intron variant)	not provided	GBenign
Select item 667875	NM_153676.4(USH1C):c.2656-260A>G	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1283894	NM_153676.4(USH1C):c.2655+264T>C	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249987	NM_153676.4(USH1C):c.2655+180C>A	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196671	NM_153676.4(USH1C):c.2655+33T>A	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504697	NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu)	USH1C (G877E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 48010	NM_153676.4(USH1C):c.2617G>A (p.Val873Met)	USH1C (V873M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GLikely benign
Select item 504696	NM_153676.4(USH1C):c.2616C>T (p.Ala872=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 48009	NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)	USH1C (A871T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 180086	NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln)	USH1C (R864Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 451345	NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter)	USH1C (R864*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 730376	NM_153676.4(USH1C):c.2566G>A (p.Val856Ile)	USH1C (V856I)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 178560	NM_153676.4(USH1C):c.2547-8A>G	USH1C	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 48008	NM_153676.4(USH1C):c.2547-11T>C	USH1C	Single nucleotide variant (intron variant)	Usher syndrome type 1C +3 more	GBenign
Select item 1208721	NM_153676.4(USH1C):c.2547-46G>A	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678908	NM_153676.4(USH1C):c.2547-159_2547-158del	USH1C	Deletion (intron variant)	not provided	GBenign
Select item 678883	NM_153676.4(USH1C):c.2547-183C>G	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180573	NM_153676.4(USH1C):c.2546+125A>G	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 950695	NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn)	USH1C (D847N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3342580	NM_153676.4(USH1C):c.2515G>A (p.Val839Ile)	USH1C (V520I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 48007	NM_153676.4(USH1C):c.2499C>T (p.Ile833=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1C +2 more	GBenign/Likely benign
Select item 1213281	NM_153676.4(USH1C):c.2491-41C>T	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678909	NM_153676.4(USH1C):c.2491-165C>A	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195262	NM_153676.4(USH1C):c.2490+174G>A	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 48006	NM_153676.4(USH1C):c.2490+12G>C	USH1C	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GBenign
Select item 48005	NM_153676.4(USH1C):c.2488G>A (p.Gly830Arg)	USH1C (G530R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 557049	NM_153676.4(USH1C):c.2487C>T (p.Gly829=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1C +2 more	GConflicting classifications of pathogenicity
Select item 48004	NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr)	USH1C (A520T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 48003	NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp)	USH1C (E519D +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +3 more	GBenign
Select item 1342767	NM_153676.4(USH1C):c.2443C>A (p.Leu815Met)	USH1C (L496M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 281628	NM_153676.4(USH1C):c.2443C>T (p.Leu815=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 48002	NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn)	USH1C (T514N +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +4 more	GUncertain significance
Select item 178562	NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)	USH1C (G507S +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +4 more	GUncertain significance
Select item 178563	NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr)	USH1C (A504T +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +2 more	GConflicting classifications of pathogenicity
Select item 262732	NM_153676.4(USH1C):c.2381-46G>A	USH1C	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GBenign
Select item 929922	NM_153676.4(USH1C):c.2377C>T (p.His793Tyr)	USH1C (H793Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 992072	NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp)	USH1C (R473W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 47999	NM_153676.4(USH1C):c.2347G>T (p.Ala783Ser)	USH1C (A483S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 47997	NM_153676.4(USH1C):c.2340C>T (p.Val780=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1C +3 more	GBenign
Select item 1042355	NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn)	USH1C (D454N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2142878	NM_153676.4(USH1C):c.2295C>G (p.Asp765Glu)	USH1C (D446E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 504698	NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe)	USH1C (S463F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 678882	NM_153676.4(USH1C):c.2281-113A>G	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677704	NM_153676.4(USH1C):c.2280+29C>T	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210706	NM_153676.4(USH1C):c.2280+23G>A	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 505188	NM_153676.4(USH1C):c.2280+6del	USH1C	Deletion (intron variant)	not provided +1 more	GUncertain significance
Select item 992075	NM_153676.4(USH1C):c.2270G>A (p.Arg757His)	USH1C (R438H +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +3 more	GUncertain significance
Select item 500843	NM_153676.4(USH1C):c.2265C>T (p.Leu755=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 992076	NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp)	USH1C (R435W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3252783	NM_153676.4(USH1C):c.2254G>C (p.Asp752His)	USH1C (D433H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 178564	NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)	USH1C (Q447R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1186888	NM_153676.4(USH1C):c.2227-118T>G	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670420	NM_153676.4(USH1C):c.2226+197G>A	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 47995	NM_153676.4(USH1C):c.2226+12C>T	USH1C	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GBenign
Select item 1328648	NM_153676.4(USH1C):c.2185-34C>T	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265713	NM_153676.4(USH1C):c.2184+254C>G	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678881	NM_153676.4(USH1C):c.2184+229C>T	USH1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201325	NM_153676.4(USH1C):c.2184+47G>A	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212996	NM_153676.4(USH1C):c.2184+21T>G	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 47992	NM_153676.4(USH1C):c.2184+12C>T	USH1C	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 47990	NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)	USH1C (Q723*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 489199	NM_153676.4(USH1C):c.2138A>G (p.Gln713Arg)	USH1C (Q713R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1249266	NM_153676.4(USH1C):c.2134-22dup	USH1C	Duplication (intron variant)	not provided	GBenign
Select item 1181907	NM_153676.4(USH1C):c.2134-11T>C	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 47989	NM_153676.4(USH1C):c.2134-12T>C	USH1C	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GBenign
Select item 2582111	NM_153676.4(USH1C):c.2122T>C (p.Ser708Pro)	USH1C (S708P)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 179845	NM_153676.4(USH1C):c.2112A>G (p.Pro704=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1 +4 more	GLikely benign
Select item 765914	NM_153676.4(USH1C):c.2039C>A (p.Pro680Gln)	USH1C (P680Q)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 178566	NM_153676.4(USH1C):c.2014-1G>A	USH1C	Single nucleotide variant (intron variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1197097	NM_153676.4(USH1C):c.2014-305G>C	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667351	NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu)	USH1C (P667L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1315317	NM_153676.4(USH1C):c.1994G>A (p.Ser665Asn)	USH1C (S665N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365913	NM_153676.4(USH1C):c.1907G>T (p.Arg636Leu)	USH1C (R636L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 47986	NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys)	USH1C (R636C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 754272	NM_153676.4(USH1C):c.1880A>G (p.Glu627Gly)	USH1C (E627G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 47984	NM_153676.4(USH1C):c.1872G>A (p.Ser624=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 166377	NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu)	USH1C (R620L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 675675	NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys)	USH1C (R620C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1704932	NM_153676.4(USH1C):c.1831G>A (p.Val611Ile)	USH1C (V611I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 763810	NM_153676.4(USH1C):c.1831G>T (p.Val611Phe)	USH1C (V611F)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 516266	NM_153676.4(USH1C):c.1824G>C (p.Pro608=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 5148	NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)	USH1C (P608R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +3 more	GConflicting classifications of pathogenicity
Select item 1315460	NM_153676.4(USH1C):c.1793G>A (p.Arg598His)	USH1C (R598H)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 47982	NM_153676.4(USH1C):c.1770C>T (p.Ala590=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +3 more	GBenign
Select item 743681	NM_153676.4(USH1C):c.1768G>A (p.Ala590Thr)	USH1C (A590T)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 47981	NM_153676.4(USH1C):c.1740T>C (p.Pro580=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 505083	NM_153676.4(USH1C):c.1699C>T (p.Pro567Ser)	USH1C (P567S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 166380	NM_153676.4(USH1C):c.1632C>T (p.Asp544=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 166382	NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr)	USH1C (A533T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1306040	NM_153676.4(USH1C):c.1591C>T (p.Arg531Cys)	USH1C (R531C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 3